THE BEST DISEASE The best disease also known as vitelliform macular dystrophy is an hereditory form of macular dystrophy first identified in 1905.
The macula is a small area of about 1mm in a diameter in the centre of the retina at the back of the eye where there is concentration of the cone cells. These cels are responsible for colour vision, sharp visual activity and central vision.
There are 6-7 million cone cells in the retina, the highest concentration of which is in the fovea a tiny area in the centre of macula. These conditions can be identified between 3 and 15 years. This condition tends to run through the family.
Symptoms!!!!!
Best disease has 5 stages on effects of this disease is Stage 1, no effect stage 2, yellow spots on eye some people call it the "egg-yolk" lesion. Stage 3, might be a little affected vision. Stage 4, yellow spots breaks up in a process called scrambled- egg. Stage 5, causes the most server sight loss.
This is a picture of the 5 stages.
Treatments????????????????????????????????????
There is curently no treatments availible at this time but scientific research , both traditional and genitic may provide useful treatments for the future.
People With Best Disease!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!
People with best disease have to be hospitilized so they can get enough nutrients and vitamens so eyesight can get better. They Should stay away from other family members and friends so they can or cannot get the disease.
Other Important Stuff You Need To Know About Best Disease
It is a dominant trait.
This means that if a parent has Best disease then each of their children has a50% chance of inheriting the abnormal gene. VMD2 is the gene that has been associated with Best disease. The normal bestrophin gene has 585 amino acids. The abnormal genes produced in Best disease are typically missense or truncated. Genetic testing does not always give absolute answers. It is possible to test negative for the gene mutation and still have Best disease. As well, the genetic test may miss large mutations in the gene and not recognize the condition as Best disease. One study notes that detection rates for gene mutations is much higher for those individuals with a family history of Best disease. This means that the sequence analysis pick up around 96% of affected people with a family history of Best disease, but only 50-70% of people with no family history. Penetrance of the abnormal gene appears to be essentially complete, with rare exception. Best disease is autosomal dominant; in other words, a mutation in only one copy of the VMD2 gene located on chromosome 11 may result in development of the disease. Prior to their vision loss, individuals with Best disease accumulate a mass of fat-like material that resembles an egg yolk (vitelline is a word that means yolk-like) in the area of the retina responsible for central vision. Surprisingly, it is the breakup of this mass rather than its formation that is associated with the gradual vision loss characteristic of Best disease.
Little is known about the protein product of the VMD2 gene, although its function seems to be restricted to an area of the eye known as the retinal pigment epithelium. There is speculation that the protein encoded by VMD2 may be involved in the removal and/or processing of photoreceptor components. Determination of the VMD2 protein function and development of an animal model and will be the next crucial steps toward a better understanding of Best disease. This Disease can go down the family tree and could pass it on to your kids. No sex gender any type can get it.
This is a picture of the best disease.
People You Should Contact If You Have The Best Disease
Rnib Helpline #0303 -123- 999
eyehealtharnib.org.uk
macular disease society #0845- 241- 204
and even more online.
Websites to go on for best disease www.nchi.nlm.inh.gov/disease www.emedicine.mescape.com/article www.rnib.org.uk/eyehealth
Questions For You To Answer???????????????????????????????????????????????????????????
1. WHAT GENDER GETS THE BEST DISEASE???????????????????
2. IS THE BEST DISEASE A DOMINANT TRAIT OR RECISSIVE ??????????????????????????
3. DOES THIS DISEASE GO DOWN THE FAMILY TREE???????????????
Thank You For Loking At My Wikispace
Made By Wanya Smith-Austin
THE BEST DISEASE The best disease also known as vitelliform macular dystrophy is an hereditory form of macular dystrophy first identified in 1905.
The macula is a small area of about 1mm in a diameter in the centre of the retina at the back of the eye where there is concentration of the cone cells. These cels are responsible for colour vision, sharp visual activity and central vision.
There are 6-7 million cone cells in the retina, the highest concentration of which is in the fovea a tiny area in the centre of macula. These conditions can be identified between 3 and 15 years. This condition tends to run through the family.
Symptoms!!!!!
Best disease has 5 stages on effects of this disease is Stage 1, no effect stage 2, yellow spots on eye some people call it the "egg-yolk" lesion. Stage 3, might be a little affected vision. Stage 4, yellow spots breaks up in a process called scrambled- egg. Stage 5, causes the most server sight loss.
This is a picture of the 5 stages.
Treatments????????????????????????????????????
People With Best Disease!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!
People with best disease have to be hospitilized so they can get enough nutrients and vitamens so eyesight can get better. They Should stay away from other family members and friends so they can or cannot get the disease.
Other Important Stuff You Need To Know About Best Disease
It is a dominant trait.
This means that if a parent has Best disease then each of their children has a50% chance of inheriting the abnormal gene. VMD2 is the gene that has been associated with Best disease. The normal bestrophin gene has 585 amino acids. The abnormal genes produced in Best disease are typically missense or truncated. Genetic testing does not always give absolute answers. It is possible to test negative for the gene mutation and still have Best disease. As well, the genetic test may miss large mutations in the gene and not recognize the condition as Best disease. One study notes that detection rates for gene mutations is much higher for those individuals with a family history of Best disease. This means that the sequence analysis pick up around 96% of affected people with a family history of Best disease, but only 50-70% of people with no family history. Penetrance of the abnormal gene appears to be essentially complete, with rare exception. Best disease is autosomal dominant; in other words, a mutation in only one copy of the VMD2 gene located on chromosome 11 may result in development of the disease. Prior to their vision loss, individuals with Best disease accumulate a mass of fat-like material that resembles an egg yolk (vitelline is a word that means yolk-like) in the area of the retina responsible for central vision. Surprisingly, it is the breakup of this mass rather than its formation that is associated with the gradual vision loss characteristic of Best disease.Little is known about the protein product of the VMD2 gene, although its function seems to be restricted to an area of the eye known as the retinal pigment epithelium. There is speculation that the protein encoded by VMD2 may be involved in the removal and/or processing of photoreceptor components. Determination of the VMD2 protein function and development of an animal model and will be the next crucial steps toward a better understanding of Best disease. This Disease can go down the family tree and could pass it on to your kids. No sex gender any type can get it.
This is a picture of the best disease.
People You Should Contact If You Have The Best Disease
Rnib Helpline #0303 -123- 999
eyehealtharnib.org.uk
macular disease society #0845- 241- 204
and even more online.
Websites to go on for best disease
www.nchi.nlm.inh.gov/disease
www.emedicine.mescape.com/article
www.rnib.org.uk/eyehealth
Questions For You To Answer???????????????????????????????????????????????????????????
1. WHAT GENDER GETS THE BEST DISEASE???????????????????
2. IS THE BEST DISEASE A DOMINANT TRAIT OR RECISSIVE ??????????????????????????
3. DOES THIS DISEASE GO DOWN THE FAMILY TREE???????????????
Thank You For Loking At My Wikispace
Made By Wanya Smith-Austin